Canonical Allele Identifier: CA390513631

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278490-A-G
• MyVariant Identifiers: chr14:g.77744833A>G (hg19) ; chr14:g.77278490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278490A>G , CM000676.2:g.77278490A>G	GRCh38
NC_000014.8:g.77744833A>G , CM000676.1:g.77744833A>G	GRCh37
NC_000014.7:g.76814586A>G	NCBI36
NG_008897.1:g.47393T>C , LRG_844:g.47393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.976T>C
ENST00000556394.2:c.1592T>C	ENSP00000451967.2:p.Leu531Pro
ENST00000682247.1:c.2040T>C	ENSP00000507213.1:p.Pro680=
ENST00000682395.1:n.2515T>C
ENST00000682459.1:n.1754T>C
ENST00000682467.1:c.1910T>C	ENSP00000508062.1:p.Leu637Pro
ENST00000682795.1:c.2198T>C	ENSP00000507574.1:p.Leu733Pro
ENST00000682895.1:n.1767T>C
ENST00000682955.1:n.1625T>C
ENST00000683188.1:c.2312T>C
ENST00000683380.1:n.1715T>C
ENST00000683907.1:c.316T>C	ENSP00000507754.1:n.316T>C
ENST00000684259.1:n.3818T>C
ENST00000684538.1:n.1430T>C
ENST00000684549.1:n.1602T>C
ENST00000261534.9:c.2051T>C MANE Select	ENSP00000261534.4:p.Leu684Pro
ENST00000261534.8:c.2051T>C	ENSP00000261534.4:p.Leu684Pro
ENST00000452340.7:n.3027T>C
ENST00000554767.5:n.2837T>C
ENST00000555710.1:c.412T>C	ENSP00000451730.1:n.412T>C
ENST00000556394.1:c.106T>C
ENST00000556446.1:n.352T>C
ENST00000602717.5:c.266T>C	ENSP00000487704.1:p.Leu89Pro
NM_013382.5:c.2051T>C , LRG_844t1:c.2051T>C	NP_037514.2:p.Leu684Pro
XM_011536675.1:c.2240T>C	XP_011534977.1:p.Leu747Pro
XM_011536676.1:c.1907T>C	XP_011534978.1:p.Leu636Pro
XM_011536677.1:c.1781T>C	XP_011534979.1:p.Leu594Pro
XM_011536679.1:c.1334T>C	XP_011534981.1:p.Leu445Pro
XR_943416.1:n.2304T>C
XM_011536675.2:c.2240T>C	XP_011534977.1:p.Leu747Pro
XM_011536676.2:c.1907T>C	XP_011534978.1:p.Leu636Pro
XM_011536677.3:c.1781T>C	XP_011534979.1:p.Leu594Pro
XR_001750279.1:n.2337T>C
XR_001750282.1:n.2990T>C
XR_943416.3:n.2302T>C
NM_013382.6:c.2051T>C	NP_037514.2:p.Leu684Pro
NM_013382.7:c.2051T>C MANE Select	NP_037514.2:p.Leu684Pro